Ultragenyx Funds University Researcher’s Search for MD Treatment for His Daughter

Margarida Azevedo, MSc avatar

by Margarida Azevedo, MSc |

Share this article:

Share article via email

Ultragenyx, a biopharma dedicated to the development of investigational products for rare diseases, will fund the efforts of a team of scientists from Saint Louis University (SLU) to advance a treatment for muscular dystrophy, inspired by lead researcher Dr. Fran Sverdrup’s daughter, who was diagnosed with the disease.

SLU’s Center for World Health and Medicine, which develops new therapies for rare diseases, has agreed to a three-year partnership to advance a potential treatment identified by Sverdrup for Facioscapulohumeral Muscular Dystrophy (FSHD) – a muscle degenerative disease. Sverdrup’s daughter was diagnosed with FSHD in 2011, a year after he joined the center. Sverdrup quest for a treatment began right away, but he learned during the process that there were no therapies available for patients with the disease.

But Sverdrup realized that, being a scientist with access to all the resources he needed, he may be able to have a real impact on studies in MD research.

“When my daughter was diagnosed with FSHD, I realized I had the opportunity to jump in and do something about it. The very mission of the center allowed me to start a new research project, a project aimed at finding a therapy for my own daughter,” Sverdrup said in a press release. “I was in the right place, with a talented group of researchers, very passionate individuals, who wanted to take up that cause with me.”

Back in 2012, Sverdrup had found a class of compounds that appeared to “unplug” the toxic gene that is abnormally expressed in FSHD cells, potentially correcting the fault. Four years after his discovery, Sverdrup is seeing his efforts pay off, with SLU and Ultragenyx agreeing that his discoveries have a real potential to pave the way toward developing a treatment for FSHD.

Ultragenyx Pharmaceuticals President and CEO Emil Kakkis, M.D., Ph.D., said that the San Francisco Bay Area-based company is driven to help FSHD patients and to be a part of this project. “SLU has a great start scientifically and we’re excited to begin a robust collaboration to bring forward what we hope will be the first treatment for this debilitating and progressive disease.”

Ultragenyx will finance SLU’s initial discoveries into an actual drug that can be up for demonstration of proof of concept. If this is a success, the company will then lead human clinical trials to assess the safety and efficacy of the potential new therapy.

“By combining our center’s specialized drug development capabilities with the rare disease expertise of Ultragenyx, I’m optimistic our collaboration will increase the chances of delivering an effective therapy to patients with FSHD,” said Pete Ruminski, executive director of SLU’s Center for World Health and Medicine.

Since a therapy developed for FSHD would likely fit an Orphan Drug category – the official U.S. FDA designation for medicines developed for rare diseases – this new drug could be qualified for expedited reviews and fast-track status through the FDA clinical trial process.

Sverdrup is now eager to take on the next steps of his important project.

“I’m thrilled that we have a committed partner who is intent on driving this forward as quickly as possible, to get this into the clinic,” he said. “Our goal is to develop the first therapy for all patients with this disease, including my daughter. This is an important step in a long, often difficult process, certainly a great milestone in our efforts to bring a therapy forward.”

He added: “My daughter is a very smart, very beautiful girl with a rewarding life in front of her. I want to do everything I can to make certain that happens.”